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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis · Norman-Landing disease
Erythema palmare hereditarium
Lane disease · Red palms disease
Familial LCAT deficiency
Complete LCAT deficiency · FLD
GM1 gangliosidosis
Beta-galactosidase-1 deficiency · GLB1 deficiency
Histoplasmosis
Darling disease
Lafora disease
EPM2 · PME type 2
Norrie disease
Atrophia bulborum hereditaria · Episkopi blindness
Pontocerebellar hypoplasia type 1
Norman disease · PCH1
Wolman disease